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High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Autor: A.T. van der Ploeg, Annet M. Bosch, Femke Molema, Judith J.M. Jans, Mirian C. H. Janssen, Martijn C. G. J. Brouwers, Dimitris Rizopoulos, Sabine A. Fuchs, Hanneke A. Haijes, Nanda M. Verhoeven-Duif, M.C. de Vries, Monique Williams, F. J. van Spronsen, Janneke G. Langendonk, P.M. van Hasselt, M. E. Rubio-Gozalbo, Margot F. Mulder, Margreet A E M Wagenmakers

Publikováno v: Clinical Nutrition, 40(5), 3622-3630. Churchill Livingstone
Clinical Nutrition, 40, 3622-3630
Clinical Nutrition, 40, 5, pp. 3622-3630
Clinical nutrition (Edinburgh, Scotland), 40(5), 3622-3630. Churchill Livingstone
Molema, F, Haijes, H A, Janssen, M C, Bosch, A M, van Spronsen, F J, Mulder, M F, Verhoeven-Duif, N M, Jans, J J M, van der Ploeg, A T, Wagenmakers, M A, Rubio-Gozalbo, M E, Brouwers, M C G J, de Vries, M C, Fuchs, S, Langendonk, J G, Rizopoulos, D, van Hasselt, P M & Williams, M 2021, ' High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome ', Clinical Nutrition, vol. 40, no. 5, pp. 3622-3630 . https://doi.org/10.1016/j.clnu.2020.12.027

Background and objective: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7707b9fbf36a7f8b9b343709220c73
https://doi.org/10.1016/j.clnu.2020.12.027

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Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria

Autor: H.A. van Kooten, L. Harlaar, N.A.M.E. van der Beek, P.A. van Doorn, A.T. van der Ploeg, E. Brusse, W.L. van der Pol (Chair), I.A.M. Ditters, M.J. Hoogendijk-Boon, H.H. Huidekoper, E.J.O. Kompanje, A. Oskam, W.W.M. Pijnappel, B.J. Sibbles, J.J.A. van den Dorpel, J.M.P. van der Hout, H. van der Kuy, A.G. Vulto, M.A.E.M. Wagenmakers

Publikováno v: Neuromuscular Disorders, 30(1), 59-66. Elsevier Ltd.

Enzyme replacement therapy for Pompe disease received market authorization in 2006. To implement this costly treatment in the Netherlands in the most sensible way, a multidisciplinary expert committee was installed. We evaluated decision making in ad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d633946790cfcdc6e4025fefaf936fc
https://doi.org/10.1016/j.nmd.2019.11.007

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